Variant report

Variant	rs73786256
Chromosome Location	chr5:126315120-126315121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126308755..126310486-chr5:126315115..126318013,2	MCF-7	breast:
2	chr5:126312688..126315514-chr5:126332602..126335445,3	K562	blood:
3	chr5:126305751..126315472-chr5:126364085..126368843,14	K562	blood:
4	chr5:126313193..126316253-chr5:126318541..126320305,3	K562	blood:
5	chr5:126313681..126317112-chr5:126318689..126323055,6	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11241915	0.89[ASN][1000 genomes]
rs17165220	0.89[ASN][1000 genomes]
rs17165223	0.85[ASN][1000 genomes]
rs17839706	0.89[ASN][1000 genomes]
rs2240529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2240530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55736801	0.89[ASN][1000 genomes]
rs55780389	1.00[ASN][1000 genomes]
rs55807699	0.89[ASN][1000 genomes]
rs55887767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55926617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55958512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56063325	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56102558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56298765	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57273792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57394214	0.89[ASN][1000 genomes]
rs57448612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57496473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57691405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58170839	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59022768	0.89[ASN][1000 genomes]
rs59255338	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59584486	0.89[ASN][1000 genomes]
rs59722252	1.00[ASN][1000 genomes]
rs60381307	0.89[ASN][1000 genomes]
rs60409361	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61137046	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61563447	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61563838	0.89[ASN][1000 genomes]
rs73783474	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783479	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783483	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783485	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783511	1.00[ASN][1000 genomes]
rs73783517	0.89[ASN][1000 genomes]
rs73783518	0.89[ASN][1000 genomes]
rs73783519	0.89[ASN][1000 genomes]
rs73783522	0.89[ASN][1000 genomes]
rs73786208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786289	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786297	1.00[ASN][1000 genomes]
rs73786300	1.00[ASN][1000 genomes]
rs73786301	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786302	1.00[ASN][1000 genomes]
rs73787405	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73787409	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126306400-126317800	Weak transcription	Ovary	ovary
2	chr5:126306600-126317800	Weak transcription	Aorta	Aorta
3	chr5:126307400-126316800	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:126307400-126317800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:126308400-126317800	Weak transcription	HSMMtube	muscle
6	chr5:126308400-126328800	Weak transcription	Gastric	stomach
7	chr5:126309000-126319200	Weak transcription	Fetal Intestine Small	intestine
8	chr5:126309000-126331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:126309000-126331600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:126309400-126315800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:126309400-126317600	Weak transcription	Brain Substantia Nigra	brain
12	chr5:126309400-126319000	Weak transcription	Spleen	Spleen
13	chr5:126309400-126323000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:126309400-126323200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:126309400-126323200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:126309400-126334000	Weak transcription	Small Intestine	intestine
17	chr5:126309600-126318800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:126310000-126323400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:126312200-126317000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:126312200-126320600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:126312600-126317800	Weak transcription	Lung	lung
22	chr5:126312600-126317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:126312600-126319200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:126312600-126323400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:126312800-126317800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:126312800-126318400	Enhancers	Fetal Heart	heart
27	chr5:126312800-126320600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:126312800-126322800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:126312800-126331600	Weak transcription	HSMM	muscle
30	chr5:126313800-126317000	Weak transcription	Left Ventricle	heart
31	chr5:126314400-126315200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:126314400-126315400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr5:126314400-126323400	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:126314600-126315200	Enhancers	Primary B cells from cord blood	blood
35	chr5:126314600-126315200	Enhancers	K562	blood
36	chr5:126314600-126317800	Weak transcription	Right Ventricle	heart
37	chr5:126314600-126318000	Weak transcription	Right Atrium	heart
38	chr5:126314800-126315200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr5:126314800-126315200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:126315000-126315200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:126315000-126315200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:126315000-126315200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:126315000-126317800	Weak transcription	Psoas Muscle	Psoas
44	chr5:126315000-126320000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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